argininosuccinate synthase 1

URI: https://gptkb.org/entity/argininosuccinate_synthase_1
GPTKB entity
Statements (32)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkbp:alternativeName gptkb:argininosuccinate_synthetase
gptkb:ASS
gptkbp:associatedWith gptkb:citrullinemia_type_I
gptkbp:cofactor gptkb:ATP
gptkbp:encodedBy ASS1 gene
gptkbp:Entrez_Gene_ID GC09M133774
gptkbp:enzymeCommissionNumber EC 6.3.4.5
gptkbp:expressedIn gptkb:kidney
liver
other tissues
gptkbp:function catalyzes the synthesis of argininosuccinate from citrulline and aspartate
gptkbp:gene gptkb:ASS1
gptkbp:HGNC_ID gptkb:HGNC:746
https://www.w3.org/2000/01/rdf-schema#label argininosuccinate synthase 1
gptkbp:involves gptkb:urea_cycle
gptkbp:locatedOnChromosome chromosome 9q34.1
gptkbp:location cytosol
gptkbp:molecularWeight approximately 46 kDa
gptkbp:mutationAssociatedWith argininosuccinic aciduria
gptkbp:OMIM 603470
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Ass1
gptkbp:PDB 1A9S
gptkbp:product argininosuccinate
gptkbp:RefSeq NM_000050
gptkbp:structure homotetramer
gptkbp:substrate gptkb:aspartate
citrulline
gptkbp:UniProtID P00966
gptkbp:bfsParent gptkb:ASS1
gptkbp:bfsLayer 6